Main clinical features
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spastic paraparesis, scissor gait, toe walking, brisk reflexes, extensor plantar responses and pes cavus PMID:15635080
childhood onset (between 7 and 8 years), progressive spastic paraparesis with dysarthria and distal amyotrophy in both upper and lower limbs
progressive dysarthria and walking difficulties, distal amyotrophy, and mild intellectual impairment PMID:15635080
gait difficulties occurred from 2 to 19 years of age, spasticity of the lower limbs with variable spastic of the upper limbs, increased reflexes, and bilateral Babinski sign PMID:23746551
Pseudobulbar dysarthria, Lower motor neuron involvement with variability at later disease stages, , decrease or absence of lower limb tendon reflexes during the course of the disease , and peripheral neuropathy predominantly of the axonal type PMID:23746551
Mild to moderate cognitive impairment and developmental delay, cerebellar signs and extrapyramidal signs such as facial dyskinesia and dystonia, bladder disturbances, peripherally decreased vibration sense, scoliosis, pes cavus , and strabismus PMID:23746551
reduced serum testosterone, hypogonadism and delayed puberty PMID:23746551 |